Clinically relevant functional annotation of genotype

Circ Cardiovasc Genet. 2014 Feb;7(1):2-3. doi: 10.1161/CIRCGENETICS.114.000506.
No abstract available

Publication types

  • Editorial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Fabry Disease / diagnosis*
  • Female
  • Glycolipids / analysis*
  • Humans
  • Male
  • Sphingolipids / analysis*
  • alpha-Galactosidase / genetics*

Substances

  • Glycolipids
  • Sphingolipids
  • globotriaosyl lysosphingolipid
  • alpha-Galactosidase